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一名患有先天性溶血性贫血和严重肌张力减退儿童的磷酸丙糖异构酶缺乏症

Triosephosphate isomerase deficiency in a child with congenital hemolytic anemia and severe hypotonia.

作者信息

Linarello R E, Shetty A K, Thomas T, Warrier R P

机构信息

Department of Pediatrics, LSU School of Medicine, New Oreleans 70112, USA.

出版信息

Pediatr Hematol Oncol. 1998 Nov-Dec;15(6):553-6. doi: 10.3109/08880019809018318.

DOI:10.3109/08880019809018318
PMID:9842650
Abstract

A discussion of a 5-year-old child with congenital hemolytic anemia and severe hypotonia caused by triosephosphate (TPI) deficiency is presented. The complexities in the diagnosis and management of this condition is discussed and the relevant literature is reviewed.

摘要

本文介绍了一名5岁儿童因磷酸丙糖异构酶（TPI）缺乏导致先天性溶血性贫血和严重肌张力减退的病例。文中讨论了该病症诊断和治疗的复杂性，并对相关文献进行了综述。

相似文献

1
Triosephosphate isomerase deficiency in a child with congenital hemolytic anemia and severe hypotonia.一名患有先天性溶血性贫血和严重肌张力减退儿童的磷酸丙糖异构酶缺乏症
Pediatr Hematol Oncol. 1998 Nov-Dec;15(6):553-6. doi: 10.3109/08880019809018318.
2
Reappraisal of triosephosphate isomerase deficiency.磷酸丙糖异构酶缺乏症的重新评估
Eur J Haematol. 2011 Mar;86(3):265-7. doi: 10.1111/j.1600-0609.2010.01484.x.
3
Triosephosphate isomerase deficiency. genetic, enzymatic and metabolic characterization of a new case from Spain.磷酸丙糖异构酶缺乏症。来自西班牙的一例新病例的遗传学、酶学及代谢特征
Haematologica. 2002 Apr;87(4):ECR12.
4
[Congenital hemolytic anemia due to triosephosphate isomerase deficiency].
Pediatrie. 1975 Jan-Feb;30(1):55-65.
5
[A case of congenital non-spherocytic hemolytic anemia caused by triose phosphate isomerase deficiency. Prenatal diagnosis].[1例由磷酸丙糖异构酶缺乏引起的先天性非球形红细胞溶血性贫血。产前诊断]
J Genet Hum. 1986 Nov;34(5):431-7.
6
Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers one with and one without neurological symptoms.遗传性磷酸丙糖异构酶（TPI）缺乏症：两名严重受影响的兄弟，其中一名有神经症状，另一名没有。
Hum Genet. 1993 Nov;92(5):486-90. doi: 10.1007/BF00216456.
7
Hemolytic anemia and progressive neurologic impairment: think about triosephosphate isomerase deficiency.溶血性贫血和进行性神经功能损害：考虑磷酸丙糖异构酶缺乏症。
Fetal Pediatr Pathol. 2014 Aug;33(4):234-8. doi: 10.3109/15513815.2014.915365. Epub 2014 May 19.
8
Enhanced association of mutant triosephosphate isomerase to red cell membranes and to brain microtubules.突变型磷酸丙糖异构酶与红细胞膜及脑微管的关联增强。
Proc Natl Acad Sci U S A. 2000 Feb 1;97(3):1026-31. doi: 10.1073/pnas.97.3.1026.
9
Triosephosphate isomerase deficiency with hemolytic anemia and severe neuromuscular disease: familial and biochemical studies of a case found in Spain.
Hum Genet. 1978 Jun 9;42(2):171-80. doi: 10.1007/BF00283637.
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Triosephosphate isomerase deficiency: a patient with Val231Met mutation.磷酸丙糖异构酶缺乏症：携带 Val231Met 突变的患者。
Pediatr Neurol. 2011 Feb;44(2):139-42. doi: 10.1016/j.pediatrneurol.2010.08.016.

引用本文的文献

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Neuromuscular dysfunction and pathogenesis in triosephosphate isomerase deficiency.三磷酸甘油醛异构酶缺乏症的神经肌肉功能障碍及发病机制。
Sci Rep. 2024 Aug 10;14(1):18575. doi: 10.1038/s41598-024-69618-7.
2
Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature.磷酸丙糖异构酶缺乏症：无关患者中的E105D突变及文献综述
Mol Syndromol. 2023 Jun;14(3):231-238. doi: 10.1159/000528192. Epub 2023 Jan 19.
3
Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo.
TPI1（精氨酸 189 到谷氨酰胺）中的错义变异通过三磷酸甘油醛异构酶催化位点的结构变化和体内酶水平降低导致神经功能缺陷。
Biochim Biophys Acta Mol Basis Dis. 2019 Sep 1;1865(9):2257-2266. doi: 10.1016/j.bbadis.2019.05.002. Epub 2019 May 7.
4
Structural analysis on mutation residues and interfacial water molecules for human TIM disease understanding.人类 TIM 疾病理解的突变残基和界面水分子的结构分析。
BMC Bioinformatics. 2013;14 Suppl 16(Suppl 16):S11. doi: 10.1186/1471-2105-14-S16-S11. Epub 2013 Oct 22.